maturity onset diabetes of the young type 1
maturity onset diabetes of the young type 1An autosomal dominant endocrinopathy (OMIM:125850) of childhood to early adult onset, which is characterised by a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Caused by loss-of-function mutation in HNF4A on chromosome 20q13.12, which encodes hepatocyte nuclear factor 4, alpha, a DNA-binding protein that regulates the transcription of several liver genes (e.g., alpha 1-antitrypsin, apolipoprotein CIII, transthyretin and HNF1-alpha).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.